ClinVar Miner

List of variants reported as likely pathogenic by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.519+4A>G rs373951216 0.00006
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val) rs200756131 0.00002
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe) rs139158852
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) rs780150093
NM_000183.3(HADHB):c.392C>T (p.Ala131Val) rs1672558537
NM_000183.3(HADHB):c.407T>C (p.Met136Thr) rs750956714
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu) rs200718690
NM_002693.3(POLG):c.502G>C (p.Ala168Pro) rs2055619068
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr) rs752450856
NM_022445.4(TPK1):c.19C>T (p.Pro7Ser) rs751034120
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter) rs1887501594

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